Research Topics
Species | FRANCIS SESSIONS COLESummaryAffiliation: Washington University School of Medicine Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Population-based estimates of surfactant protein B deficiencyF S Cole
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
Pediatrics 105:538-41. 2000..Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency...
NIH Consensus Development Conference statement: inhaled nitric-oxide therapy for premature infantsF Sessions Cole
Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Pediatrics 127:363-9. 2011....
Defects in surfactant synthesis: clinical implicationsF Sessions Cole
Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, One Children s Place, St Louis, MO 63110, USA
Pediatr Clin North Am 53:911-27, ix. 2006..In contrast to developmental causes of respiratory distress, which may improve as infants and children mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure...
Genetic disorders of neonatal respiratory functionF S Cole
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St Louis Children s Hospital, St Louis, Missouri 63110, U S A
Pediatr Res 50:157-62. 2001..We review examples of genetic variations known to be associated with or cause respiratory distress in infancy...
Population and disease-based prevalence of the common mutations associated with surfactant deficiencyTami H Garmany
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Pediatr Res 63:645-9. 2008..E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS...
Comprehensive genetic variant discovery in the surfactant protein B geneAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
Pediatr Res 62:170-5. 2007....
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
J Pediatr 155:854-859.e1. 2009..To characterize inheritance of homozygous, rare, recessive loss-of-function mutations in surfactant protein-B (SFTPB) or ATP binding cassette, subfamily A, member 3 (ABCA3) genes in newborns with lethal respiratory failure...
Developmental and genetic regulation of human surfactant protein B in vivoAaron Hamvas
Division of Newborn Medicine, the Edward Mallinckrodt Department of Pediatrics and St Louis Children s Hospital, St Louis, MO 63110, USA
Neonatology 95:117-24. 2009..Genetic and developmental disruption of surfactant protein B (SP-B) expression causes neonatal respiratory distress syndrome (RDS)...
Genetic disorders of surfactant proteinsAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
Neonatology 91:311-7. 2007..The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed...
Informed consent for genetic researchAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
Arch Pediatr Adolesc Med 158:551-5. 2004....
Genetic variant characterization in intron 4 of the surfactant protein B geneAaron Hamvas
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, USA
Hum Mutat 26:494-5. 2005..7, 95% CI 1.0-7.2). Reliable characterization of genetic variants in intron 4 requires both a high fidelity polymerase and sequencing of variant alleles...
A major deletion in the surfactant protein-B gene causing lethal respiratory distressDaniel J Wegner
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, MO 63110, USA
Acta Paediatr 96:516-20. 2007..No large deletions in SFTPB have been previously identified...
Recombination as a mechanism for sporadic mutation in the surfactant protein-C geneAmy D McBee
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Pediatr Pulmonol 43:443-50. 2008..To determine haplotype background of common mutations in the genes encoding surfactant proteins B and C (SFTPB and SFTPC) and to assess recombination in SFTPC...
Racial disparity in the frequency of recurrence of preterm birthZachary A F Kistka
Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
Am J Obstet Gynecol 196:131.e1-6. 2007..We examined the hypothesis that black race independent of other factors increases the risk for extreme preterm birth and its frequency of recurrence at a similar gestational age...
Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failureLisanne M Palomar
Edward Mallinckrodt Department of Pediatrics, Washington University, St Louis, Missouri 63110, USA
J Pediatr 149:548-53. 2006..These outcomes are important considerations in deciding to pursue lung transplantation for infants with disorders of alveolar homeostasis...
Quantification of rare allelic variants from pooled genomic DNATodd E Druley
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Nat Methods 6:263-5. 2009..Our base-calling algorithm, SNPSeeker, derived from large deviation theory, detected single-nucleotide polymorphisms present at frequencies below the raw error rate of the sequencing platform...
Research Grants
- EPIDEMIOLOGY OF SURFACTANT PROTEIN-B DEFICIENCYFRANCIS COLE; Fiscal Year: 2009..These studies will suggest new strategies for diagnosis, treatment, and prevention of neonatal respiratory distress. ..
- EPIDEMIOLOGY OF SURFACTANT PROTEIN-B DEFICIENCYFRANCIS SESSIONS COLE; Fiscal Year: 2010....
- Genetic Regulation of Surfactant DeficiencyFRANCIS SESSIONS COLE; Fiscal Year: 2010..These studies will lead to improved diagnostic capabilities and suggest novel strategies to correct surfactant deficiency in newborn infants. ..
- Genetic Regulation of Surfactant DeficiencyFRANCIS COLE; Fiscal Year: 2009..These studies will lead to improved diagnostic capabilities and suggest novel strategies to correct surfactant deficiency in newborn infants. ..
- Genetic Basis of Inflammatory Airway DiseaseF Cole; Fiscal Year: 2007..This career development program will train young scientists to use state of the art methods in genetics and genomics to develop new diagnostic and therapeutic strategies for asthma, cystic fibrosis, and COPD. (End of Abstract) ..
- EPIDEMIOLOGY OF SURFACTANT PROTEIN-B DEFICIENCYF Cole; Fiscal Year: 2007..These studies will suggest new strategies for diagnosis, treatment, and prevention of neonatal respiratory distress. ..
- Mechanisms of Disease in the Newborn Human InfantF Cole; Fiscal Year: 2006..As such, this program should provide for new pediatric scholars to lead the way for future advances in this important area of child health. ..
- EPIDEMIOLOGY OF SURFACTANT PROTEIN-B DEFICIENCYFRANCIS COLE; Fiscal Year: 2005....
